Cystic fibrosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].

OR

[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].

Classification

Cystic fibrosis may be classified according to CFTR protein function abnormality:[1][2]

Cystic fibrosis classification according to CFTR protein function abnormality
Class Type of abnormality Features
Class 1 Lack of production Most common mutations (Class 2 is the most common mutation worldwide)

Associated with pancreatic insufficiency

Class 2 Failure to reach the site of action due to misfolding
Class 3 Defects in gating
Class 4 Conductance Rarer mutations

Typically do not have pancreatic insufficiency

Class 5 Abnormally low channel numbers
Class 6 Decreased half-life

References

  1. Burney TJ, Davies JC (2012). "Gene therapy for the treatment of cystic fibrosis". Appl Clin Genet. 5: 29–36. doi:10.2147/TACG.S8873. PMC 3681190. PMID 23776378.
  2. Ratjen F, Döring G (2003). "Cystic fibrosis". Lancet. 361 (9358): 681–9. doi:10.1016/S0140-6736(03)12567-6. PMID 12606185.

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